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Gcsh Gene Detail
Summary
  • Symbol
    Gcsh
  • Name
    glycine cleavage system protein H (aminomethyl carrier)
  • Synonyms
    1100001L02Rik, 5730591C18Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915383
    NCBI Gene: 68133
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:117708706-117720237 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 63.43 cM, cytoband E1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    58 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915383
 protein coding gene Chr8:117708549-117720276 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034169
 protein coding gene Chr8:120102322-120115721 (-)
A/J MGP_AJ_G0034149
 protein coding gene Chr8:115224045-115236321 (-)
AKR/J MGP_AKRJ_G0034076
 protein coding gene Chr8:118573614-118586860 (-)
BALB/cJ MGP_BALBcJ_G0034143
 protein coding gene Chr8:115418110-115432811 (-)
C3H/HeJ MGP_C3HHeJ_G0033854
 protein coding gene Chr8:119294679-119306296 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034663
 protein coding gene Chr8:124182201-124194012 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031605
 protein coding gene Chr8:108152896-108164432 (-)
CAST/EiJ MGP_CASTEiJ_G0033181
 protein coding gene Chr8:119117319-119132026 (-)
CBA/J MGP_CBAJ_G0033827
 protein coding gene Chr8:128660765-128676742 (-)
DBA/2J MGP_DBA2J_G0033983
 protein coding gene Chr8:114448807-114460813 (-)
FVB/NJ MGP_FVBNJ_G0033926
 protein coding gene Chr8:113427396-113439139 (-)
LP/J MGP_LPJ_G0034072
 protein coding gene Chr8:120235766-120250145 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033973
 protein coding gene Chr8:131261066-131272631 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034681
 protein coding gene Chr8:118662059-118673771 (-)
PWK/PhJ MGP_PWKPhJ_G0032883
 protein coding gene Chr8:114146175-114162395 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032723
 protein coding gene Chr8:117352774-117365265 (-)
WSB/EiJ MGP_WSBEiJ_G0033297
 protein coding gene Chr8:119371522-119384553 (-)



Homology
more
  • Human Ortholog
    GCSH, glycine cleavage system protein H
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GCSH, glycine cleavage system protein H
  • Synonyms
    GCE, MMDS7, NKH
  • Links
    NCBI Gene ID: 2653
    neXtProt AC: NX_P23434
    UniProt: P23434

  • Chr Location
    16q23.2; chr16:81081945-81096395 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human GCSH associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit decreased embryo size and fail to develop beyond early post-implantation stages with no recognizable embryonic features such as somites or cranial neural folds.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    930
  • Tissues
    148
  • cDNA Data
    99
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 68133 NCBI Gene Model | MGI Sequence Detail 11532 C57BL/6J ±  kb
    transcript NM_026572 RefSeq | MGI Sequence Detail 1247 C57BL/6  
    polypeptide Q91WK5 UniProt | EBI | MGI Sequence Detail 170 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 99
      cDNA 99

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1915663
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 5
      Gene Ontology 6
      Phenotypes 9
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:338257 Peng MZ, et al., Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism. Cell Mol Life Sci. 2022 Jun 21;79(7):375
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory